Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Coxoauricular syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Neonatal
  • Q87.1
MeSH -
MedDRA -


Coxoauricular syndrom is a dominantly inherited syndrome of short stature, ear malformations and hip dislocation. It was originally described in a mother and her 3 daughters, all of whom shared, in variable manner, shortness of stature, minor vertebral and pelvic changes, dislocated hip(s) and microtia with corresponding conductive hearing loss. X-linked dominant inheritance with lethality in hemizygous males is possible.

Expert reviewer(s)

  • Dr Martine LE MERRER

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.